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Topic Review
Genetic Comparison of SCA Cohorts
Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population stratification biases. The point mutation responsible for sickle cell anaemia codes for a variant hemoglobin, sickle hemoglobin or HbS, whose presence drives the pathophysiology of disease. 
  • 910
  • 25 Dec 2020
Topic Review
IGF2 Gene
Insulin like growth factor 2
  • 910
  • 23 Dec 2020
Topic Review
Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 910
  • 24 Dec 2020
Topic Review
FTL Gene
Ferritin light chain
  • 910
  • 25 Dec 2020
Topic Review
Frontotemporal Ddementia with Parkinsonism-17
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It is part of a group of conditions, called frontotemporal dementia or frontotemporal degeneration, that are characterized by a loss of nerve cells (neurons) in areas of the brain called the frontal and temporal lobes. Over time, a loss of these cells can affect personality, behavior, language, and movement.
  • 909
  • 25 Dec 2020
Topic Review
GBA Gene
Glucosylceramidase beta
  • 909
  • 25 Dec 2020
Topic Review
CAV1 Gene
caveolin 1
  • 908
  • 24 Dec 2020
Topic Review
Dubin-Johnson Syndrome
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. 
  • 908
  • 24 Dec 2020
Topic Review
TRPS1 Gene
Transcriptional repressor GATA binding 1: The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes.
  • 908
  • 25 Dec 2020
Topic Review
Peters Anomaly
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment.
  • 907
  • 24 Dec 2020
Topic Review
Primary Myelofibrosis
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.
  • 907
  • 04 Jan 2021
Topic Review
Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family.
  • 906
  • 24 Dec 2020
Topic Review
ARSACS
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).
  • 906
  • 04 Jan 2021
Topic Review
Polycystic Kidney Disease
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
  • 905
  • 24 Dec 2020
Topic Review
Primary Carnitine Deficiency
Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy.
  • 904
  • 24 Dec 2020
Topic Review
Sjögren Syndrome
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. The condition typically develops gradually beginning in middle adulthood, but it can occur at any age.
  • 904
  • 25 Dec 2020
Topic Review
KRT5 Gene
Keratin 5
  • 903
  • 23 Dec 2020
Topic Review
Anencephaly
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.
  • 903
  • 24 Dec 2020
Topic Review
ATP6V1B1 Gene
ATPase H+ transporting V1 subunit B1
  • 903
  • 24 Dec 2020
Topic Review
ABCC6 Gene
ATP binding cassette subfamily C member 6
  • 903
  • 24 Dec 2020
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